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Clinical Rheumatology Jun 2024Moyamoya syndrome (MMS) is a rare, chronic, progressive cerebrovascular disorder characterized by stenosis at the apices of the intracranial internal carotid arteries,... (Review)
Review
Moyamoya syndrome (MMS) is a rare, chronic, progressive cerebrovascular disorder characterized by stenosis at the apices of the intracranial internal carotid arteries, including the proximal anterior cerebral arteries and middle cerebral arteries. Cerebral angiography images are used for detection through measurement. Systemic lupus erythematosus (SLE) is an autoimmune disease that can cause multisystemic involvement. The coexistence of SLE and MMS has been rarely reported in the literature. A 46-year-old male patient with malar rash, Raynaud phenomenon presented to the hospital with a complaint of weakness in the left lower extremity, which began 3 days before the date of the visit. In the diffusion magnetic resonance imaging, multiple diffusion restrictions were observed in the right frontal region. The patient underwent MR angiography, revealing stenosis in the terminal and supraclinoid segments of the right internal carotid artery, which made us consider moyamoya disease. This patient, with a malar rash and Raynaud's, a positive antibody profile, was diagnosed as a male with SLE accompanied by MMS.
Topics: Humans; Male; Moyamoya Disease; Middle Aged; Lupus Erythematosus, Systemic; Magnetic Resonance Angiography; Raynaud Disease; Cerebral Angiography; Carotid Artery, Internal; Diffusion Magnetic Resonance Imaging
PubMed: 38625644
DOI: 10.1007/s10067-024-06960-1 -
Seminars in Arthritis and Rheumatism Jun 2016Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than... (Comparative Study)
Comparative Study Meta-Analysis Review
OBJECTIVES
Although systemic lupus erythematosus (SLE) most commonly occurs in reproductive-age women, some are diagnosed after the age of 50. Recognizing that greater than one-third of SLE criteria are cutaneous, we undertook a systematic review and meta-analysis to evaluate differences in cutaneous manifestations in early- and late-onset SLE patients.
METHODS
We searched the literature using PubMed, CINAHL, Web of Science, and Cochrane Library. We excluded studies that did not include ACR SLE classification criteria, early-onset controls, that defined late-onset SLE as <50 years of age, or were not written in English. Two authors rated study quality using the Newcastle Ottawa Quality Scale. We used Forest plots to compare odds ratios (95% CI) of cutaneous manifestations by age. Study heterogeneity was assessed using I(2).
RESULTS
Overall, 35 studies, representing 11,189 early-onset and 1727 late-onset patients with SLE, met eligibility criteria. The female:male ratio was lower in the late-onset group (5:1 versus 8:1). Most cutaneous manifestations were less prevalent in the late-onset group. In particular, malar rash [OR = 0.43 (0.35, 0.52)], photosensitivity [OR = 0.72 (0.59, 0.88)], and livedo reticularis [OR = 0.33 (0.17, 0.64)] were less common in late-onset patients. In contrast, sicca symptoms were more common [OR = 2.45 (1.91, 3.14)]. The mean Newcastle Ottawa Quality Scale score was 6.3 ± 0.5 (scale: 0-9) with high inter-rater reliability for the score (0.96).
CONCLUSIONS
Overall, cutaneous manifestations are less common in late-onset SLE patients, except sicca symptoms. Future studies should investigate etiologies for this phenomenon including roles of immune senescence, environment, gender, and immunogenetics.
Topics: Age of Onset; Alopecia; Exanthema; Female; Humans; Late Onset Disorders; Livedo Reticularis; Lupus Erythematosus, Systemic; Male; Middle Aged; Odds Ratio; Photosensitivity Disorders; Raynaud Disease; Skin Diseases; Vasculitis
PubMed: 26972993
DOI: 10.1016/j.semarthrit.2016.01.004 -
Journal of Endocrinological... Mar 2022The Primavera is considered amongst the greatest and controversial artistic masterpieces worldwide painted by renaissance artist Sandro Botticelli. The aim was to...
PURPOSE
The Primavera is considered amongst the greatest and controversial artistic masterpieces worldwide painted by renaissance artist Sandro Botticelli. The aim was to identify any underlying medical foundations for the painting.
METHODS
Observational study.
RESULTS
The painting reveals, a 'butterfly' malar rash, bilateral ptosis and a clear neck swelling consistent with a goitre in the figure of Flora. This could be explained by concomitant Graves' disease and systemic lupus erythematosus, or other presentations of multiple autoimmune syndrome.
CONCLUSION
These findings highlight the likely presentation of the earliest pictorial depictions of thyroid disease with systemic lupus erythematosus and emphasize the exactitude of depiction demonstrated by Botticelli in renaissance era.
Topics: Autoimmunity; Blepharoptosis; Diagnosis, Differential; Exanthema; Flushing; Hashimoto Disease; History, 15th Century; Humans; Italy; Lupus Erythematosus, Systemic; Medicine in the Arts; Paintings; Thyroid Neoplasms
PubMed: 34241830
DOI: 10.1007/s40618-021-01623-3 -
Scandinavian Journal of Rheumatology Jan 2019
Topics: Adult; Arthritis; Biopsy; Diagnosis, Differential; Exanthema; Humans; Lupus Erythematosus, Cutaneous; Male; Radiography; Skin
PubMed: 29631467
DOI: 10.1080/03009742.2017.1418425 -
Clinical Immunology (Orlando, Fla.) Feb 2023T-helper cytokines interferon gamma (IFNɣ), interleukin 17 (IL-17) and IL-10 impact systemic lupus erythematosus (SLE) directly and indirectly via modulation of autoAb...
T-helper cytokines interferon gamma (IFNɣ), interleukin 17 (IL-17) and IL-10 impact systemic lupus erythematosus (SLE) directly and indirectly via modulation of autoAb production. We determined the separate and combined effects on clinical manifestations of SLE (N = 62). IFNɣ, IL-17 but not IL-10 were significantly elevated in patients with SLE. IFNɣ positively correlated with anti-DNA and anti-SSA. IL-17 positively correlated with anti-SSA and was significantly higher in patients with discoid rash and class V LN. IL-10 did not correlate with circulating autoantibodies but was significantly elevated in patients with LN. Patients with LN had elevated plasma levels of anti-DNA and anti-Sm/ribonuclear protein (RNP). Anti-Sm/RNP levels were decreased in patients with acute mucocutaneous manifestations, including photosensitivity and/or malar rash. The study provides critical insights into pathological mechanisms of LN, which could help guide future diagnoses and therapies.
Topics: Humans; Cytokines; Interleukin-17; Cross-Sectional Studies; Autoantibodies; T-Lymphocytes; Lupus Erythematosus, Systemic; Interferon-gamma; Antibodies, Antinuclear; Lupus Nephritis
PubMed: 36682593
DOI: 10.1016/j.clim.2023.109239 -
Lupus Apr 2016Cutaneous lupus erythematosus (CLE) may have prognostic implications for systemic lupus erythematosus (SLE). We aimed to determine the impact of discoid lupus...
Prognostic implications of active discoid lupus erythematosus and malar rash at the time of diagnosis of systemic lupus erythematosus: Results from a prospective cohort study.
OBJECTIVE
Cutaneous lupus erythematosus (CLE) may have prognostic implications for systemic lupus erythematosus (SLE). We aimed to determine the impact of discoid lupus erythematosus (DLE) and malar rash on SLE disease activity.
METHODS
Data were analyzed from the Toronto Lupus Clinic prospective cohort study. We compared SLE patients with active DLE or malar rash at SLE diagnosis to SLE patients who never developed CLE. Outcomes were assessed at one and five years, including Adjusted Mean Systemic Lupus Erythematosus Disease Activity Index 2000 (AMS).
RESULTS
A total of 524 SLE patients (284 without CLE, 65 with DLE, and 175 with malar rash) were included. Mean AMS scores in patients without CLE at one and five years were 5.96 ± 5.06 and 4.00 ± 3.52, which did not differ significantly from scores at one (6.93 ± 5.31, p = 0.17) and five years (4.29 ± 2.62, p = 0.63) in the DLE group. In patients with malar rash, AMS scores at one (8.30 ± 6.80, p < 0.001) and five years (5.23 ± 3.06, p = 0.004) were higher than controls without CLE.
CONCLUSIONS
Malar rash may be a marker of more severe systemic disease over time, while DLE has no significant impact on general SLE disease activity.
Topics: Adult; Disease Progression; Exanthema; Facial Dermatoses; Female; Follow-Up Studies; Humans; Immunosuppressive Agents; Lupus Erythematosus, Discoid; Lupus Erythematosus, Systemic; Lupus Nephritis; Male; Middle Aged; Ontario; Prognosis; Prospective Studies; Severity of Illness Index; Time Factors; Young Adult
PubMed: 26453664
DOI: 10.1177/0961203315610645 -
Indian Dermatology Online Journal 2021Vascular disease is frequent in patients with systemic lupus erythematosus, which can be related to the disease process, or can develop as an accompanying co-morbidity...
Vascular disease is frequent in patients with systemic lupus erythematosus, which can be related to the disease process, or can develop as an accompanying co-morbidity and represents the most frequent cause of death in established disease. However, at times the presentations can be uncommon and subtle, and warrants a thorough examination both clinically and radiologically. We report a case of a young female with photosensitive malar rash, oral ulcers, intermittent fever with joint pains, history of two abortions, and unilateral absent radial and brachial artery pulses on clinical examination. The evaluation revealed positive antinuclear antibody (4+), anti-Smith antibody (2+), direct Coomb's test (2+), and antiphospholipid antibody panel was negative. Color doppler flow imaging of right upper limb (arterial) revealed irregular wall thickening with a narrow lumen and mildly reduced peak systolic volume. Computed tomography aortogram revealed wall thickening and luminal narrowing involving the entire length of the right brachial and radial artery. We report this case for its rarity and unique presentation of medium vessel vasculopathy.
PubMed: 33768039
DOI: 10.4103/idoj.IDOJ_187_20 -
Clinical Rheumatology May 2022An association between ANXA1, FPR1 and FPR2 gene polymorphisms and the patho-physiology of many human diseases was suggested by numerous studies.
BACKGROUND
An association between ANXA1, FPR1 and FPR2 gene polymorphisms and the patho-physiology of many human diseases was suggested by numerous studies.
OBJECTIVE
Our study aimed to evaluate association between common polymorphisms in the 9q21.13 and 19q13.41 and susceptibility to systemic lupus erythematosus (SLE) in the Tunisian population.
MATERIALS
We performed a case-control study on 107 Tunisian SLE patients and 122 healthy controls to explore 9 polymorphisms of the three studied genes: rs2811226 and rs3739959 (ANXA1), rs5030880, rs1042229, rs1461765570, rs17849971, rs867228 (FPR1), rs17694990 and rs11666254 (FPR2).
RESULTS
Four polymorphisms were found to be linked with SLE susceptibility: rs3739959-ANXA1 > G and GG (p = 0.021, OR = 1.73 and p = 0.014, OR = 2.06 respectively), rs867228-FPR1 > TT (p = 0.014, OR = 4.59), rs11666254-FPR2 > GG (p = 0.019, OR = 8.34) and rs17694990-FPR2 > T (p = 0.05, OR = 1.506). In homogenous groups of SLE patients depending on clinical manifestations and serological results, previous associations were confirmed with a panoply of manifestations of lupus including lupus nephritis, malar rash, mouth ulceration and hypocomplementia.
CONCLUSION
Our study showed an association between ANXA1 > rs3739959, FPR1 > rs867228, FPR2 > rs11666254, FPR2 > rs17694990 and SLE susceptibility. Our results also showed a strong association between the two ANXA1 studied SNPs and LN which allowed us to suggest these two SNPs as biomarkers of LN development in SLE. Further research is needed to understand by which mechanism the gene variants affect susceptibility to SLE. Key Points • Lupus erythematosus is an autoimmune disease in which a panoply of factors are implicated • Annexin A1 interaction with its receptors are suggested as a target in therapy of a panoply of human disease in particular cancers • The present results highlighted the implication of Annexin A1 and its receptors gene polymorphisms in the physiopathology of lupus, in particular in the involvement of renal and cutaneous lesions.
Topics: Annexin A1; Case-Control Studies; Female; Gene Frequency; Genetic Predisposition to Disease; Humans; Lupus Erythematosus, Systemic; Male; Polymorphism, Single Nucleotide
PubMed: 35028743
DOI: 10.1007/s10067-022-06057-7 -
Biology of Sex Differences Dec 2019Systemic lupus erythematosus (SLE) predominantly affects women, but previous studies suggest that men with SLE present a more severe disease phenotype. In this study, we...
OBJECTIVE
Systemic lupus erythematosus (SLE) predominantly affects women, but previous studies suggest that men with SLE present a more severe disease phenotype. In this study, we investigated a large and well-characterized patient group with the aim of identifying sex differences in disease manifestations, with a special focus on renal involvement.
METHODS
We studied a Swedish multi-center SLE cohort including 1226 patients (1060 women and 166 men) with a mean follow-up time of 15.8 ± 13.4 years. Demographic data, disease manifestations including ACR criteria, serology and renal histopathology were investigated. Renal outcome and mortality were analyzed in subcohorts.
RESULTS
Female SLE patients presented more often with malar rash (p < 0.0001), photosensitivity (p < 0.0001), oral ulcers (p = 0.01), and arthritis (p = 0.007). Male patients on the other hand presented more often with serositis (p = 0.0003), renal disorder (p < 0.0001), and immunologic disorder (p = 0.04) by the ACR definitions. With regard to renal involvement, women were diagnosed with nephritis at an earlier age (p = 0.006), while men with SLE had an overall higher risk for progression into end-stage renal disease (ESRD) with a hazard ratio (HR) of 5.1 (95% CI, 2.1-12.5). The mortality rate among men with SLE and nephritis compared with women was HR 1.7 (95% CI, 0.8-3.8).
CONCLUSION
SLE shows significant sex-specific features, whereby men are affected by a more severe disease with regard to both renal and extra-renal manifestations. Additionally, men are at a higher risk of developing ESRD which may require an increased awareness and monitoring in clinical practice.
Topics: Adult; Disease Progression; Female; Humans; Kidney Diseases; Lupus Erythematosus, Systemic; Male; Middle Aged; Pericarditis; Pleurisy; Serositis; Severity of Illness Index; Sex Characteristics; Sweden; Young Adult
PubMed: 31843005
DOI: 10.1186/s13293-019-0274-2 -
JPMA. the Journal of the Pakistan... Jan 2021In this study, the clinical and laboratory findings, management and follow-up of 32 children with paediatric systemic lupus erythematosus (pSLE) were evaluated to...
In this study, the clinical and laboratory findings, management and follow-up of 32 children with paediatric systemic lupus erythematosus (pSLE) were evaluated to determine the prognostic factors in pSLE. Of the 32 patients, 25 (78.1%) were females. Age at onset of symptoms and diagnosis in the patients were 147.6 ± 49 months and 154.3 ± 48 months, respectively. The most common symptom on admission were joint problems, seen in 25 (78.1%) patients. Haematological alterations were seen in 25 (78.1%) cases during follow-up. Lupus nephritis was diagnosed in 10 (31.2%) patients. Malar rash was seen in a total of 12 (37.5%) patients during follow up, however it had been noted in five (15.6%) patients on admission. Antinuclear antibody and anti-dsDNA were positive in all patients and 31 (96.8%) patients, respectively. Decreased complement 3 and 4 levels were noted in 23 (71.8%) patients. Antiphospholipid antibody was studied in 27 patients and it was found to be positive in 13 (48.1%) patients. In conclusion, based on our findings, we would like to emphasize that pSLE has a large and remarkable clinical and laboratory findings.
Topics: Age of Onset; Antibodies, Antinuclear; Child; Female; Humans; Lupus Erythematosus, Systemic; Lupus Nephritis; Male; Referral and Consultation
PubMed: 33484540
DOI: 10.5455/JPMA.61641